the fourth document in the word form

7/23/2019 the fourth document in the word form

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1-Which of the following is a glycoprotein hormone?

(Please select 1 option)

Growth hormone releasing hormone

Cortisol

Thyrotropin releasing hormone (TRH)

Thyrotropin (TSH) Correct

Oytocin

Thyrotropin is glycosylate!" cortisol is a steroi! hormone an! the others are pepti!ehormones#ne$ropepti!es which as a gro$p are rarely glycosylate!%

2-Which molec$le is pro!$ce! in the n$cle$s" mat$res in the cytoplasm" &in!s to theri&osome an! initiates protein synthesis?


messenger R' Correct

ri&osomal R'

R' n$cleoti!e

R' polymerase

transfer R'

Protein synthesis consists of two phases% Transcription is where one stran! of the

' !o$&le heli is $se! as a template &y R' polymerase to synthesi*e messengerR' from R' n$cleoti!es% The mR' then migrates into the cytoplasm mat$ring +

for eample &y the splicing of non+co!ing se,$ences% Translation occ$rs when theri&osome &in!s to mR' at the start co!on an! transfer R' &rings amino aci!s into

position along the mR' template% The ri&osome mo-es from co!on to co!on alongthe mR' pro!$cing a polypepti!e se,$ence%

3-Which of the following techni,$es wo$l! &e most $sef$l in the !ifferential !iagnosis&etween ectopic C$shing.s syn!rome an! pit$itary !epen!ent C$shing.s !isease%


/rine free cortisol


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High !ose eamethasone s$ppression test 0ncorrect answer selecte!

CTH concentrations

0nferior petrosal sin$s sampling This is the correct answer

CR test

0nferior petrosal sin$s sampling with an ele-ate! central CTH concentration

compare! with the peripheral -al$e is the most -al$a&le test in the !ifferential!iagnosis of either C$shing.s !isease or ectopic C$shing.s syn!rome% The other tests

are far less $sef$l in comparison

4-Which one of the following is tr$e regar!ing protein meta&olism?


There are 2 essential amino aci!s%

The a&sence of any of the essential amino aci!s res$lts in a negati-e nitrogen &alance

This is the correct answer

Protein constit$tes a&o$t 34+526 of total !aily calorie inta7e in infants an! chil!ren

0ncorrect answer selecte!

8ssential amino aci!s can &e synthesi*e! in the li-er an! 7i!neys

H$man mil7 as the only foo! pro-i!es an ins$fficient so$rce of protein for a 1+year+ol!

healthy infant

There are 9 essential amino aci!s: all are re,$ire! to maintain nitrogen &alance%

Car&ohy!rates constit$te 34+526 of total caloric inta7e in chil!ren% 8ssential aminoaci!s cannot &e synthesise! an! m$st &e o&taine! from the !iet% H$man mil7

contains the proteins casein" lactoglo&$lin an! lactal&$min" which pro-i!e a s$fficientso$rce of protein%

5- 9+year+ol! &oy presents with fe-er an! ;oint pains% 0nitially the painaffecte! his right wrist" &$t now affects his left wrist an! right an7le% He ha!

tonsillitis 5 wee7s pre-io$sly treate! with oral penicillin% $ll term normal

!eli-ery with no neonatal complications% 0mm$nisations $p to !ate% There is

no family or social history of note%

On eamination temperat$re is 3C" respiratory rate 12#min" heart rate

92#min% #@ e;ection systolic m$rm$r at the left sternal e!ge% His left wrist


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an! right an7le are e,$isitely ten!er" s$ch that e-en the &e!clothes ca$se

pain% His 8SR is 92 mm#hr an! CRP 19 mg#l% 8CG shows a PR inter-al of4%12s% His SOT is


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!r$gs

Once the iss$e of potential harm to the chil! has &een !ealt with" it is

appropriate to inform a senior colleag$e" reporting the !etails of the inci!entas soon as is reasona&ly practica&le% 0t is important that the &a&y is re-iewe!

an! that any error is !isc$sse! with the parents at the earliest possi&leopport$nity" offering an apology if appropriate% 0t is important that staff

mem&ers are open an! honest" an! gi-en an opport$nity to report theirin-ol-ement so that lessons may &e learne! to pre-ent s$ch an inci!ent

occ$rring again" incl$!ing a re-iew of protocols% G$i!ance p$&lishe! &y the

GDC in their &oo7let Goo! De!ical Practice (441) states in paragraph E

F% 0f a patient $n!er yo$r care has s$ffere! harm" thro$gh misa!-ent$re or

for any other reason" yo$ sho$l! act imme!iately to p$t matters right" if thatis possi&le% o$ m$st eplain f$lly an! promptly to the patient what has

happene! an! the li7ely long+ an! short+term effects% When appropriate yo$

sho$l! offer an apology% 0f the patient is an a!$lt who lac7s capacity" theeplanation sho$l! &e gi-en to a person with responsi&ility for the patient" orthe patient.s partner" close relati-e or a frien! who has &een in-ol-e! in the

care of the patient" $nless yo$ ha-e reason to &elie-e the patient wo$l! ha-e

o&;ecte! to the !isclos$re% 0n the case of chil!ren the sit$ation sho$l! &e

eplaine! honestly to those with parental responsi&ility an! to the chil!" ifthe chil! has the mat$rity to $n!erstan! the iss$es%F

7-n 11+!ay+ol! &a&y presents with poor fee!ing an! &reathlessness% Sheha! &een &orn at 3=#54 weighing %= 7g &y electi-e caesarian section% She

has ne-er fe! well" an! ha! !eteriorate! mar7e!ly on the !ay of a!mission%

On eamination she is respon!ing to pain" mottle! an! ha! a tympanic

temperat$re of 35%@>C% Her heart rate is 134#min with impalpa&le p$lses an!

gallop rhythm% Her respiratory rate is 54#min with mar7e! recession% She has

a 5 cm li-er% Her sat$rations an! &loo! press$re are $nrecor!a&le" &$t shehas o&-io$s central cyanosis%

What is the most li7ely mechanism of shoc7?


naemic

Car!iogenic Correct

istri&$ti-e


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Hypo-olaemic

Septic

The pict$re s$ggests !$ct+!epen!ent congenital heart !isease" with

progressi-e worsening of symptoms as the !$ct close!% Typical con!itions

incl$!e

aortic coarctation

critical aortic stenosis

tr$nc$s arterios$s

hypoplastic left heart syn!rome%

8-n 1


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9- 3+month+ol! girl presents with apnoea% She ha! &een well that morning"&$t ha! &ecome $nsettle!" crying inconsola&ly an! gra!$ally more mottle!%

Dother was &ringing her to the emergency !epartment when she stoppe!

&reathing % She respon!e! to physical stim$lation% She was &orn at 54K3#54

weighing 3%@7g an! there were no neonatal pro&lems%

On eamination she has a temperat$re of 3@%3C (tympanic)" RR 34#min an!

HR of 54#min% Her p$lse in threa!y% She has a 3 cm li-er an! gallop rhythm%

What is the most li7ely !iagnosis?


c$te life+threatening e-ent 0ncorrect answer selecte!

Aronchiolitis

Gastro+oesophageal refl$

Sei*$re

S$pra-entric$lar tachycar!ia This is the correct answer

The history s$ggests apnoea precipitate! &y tachyarrhythmia% This is most

li7ely to &e a s$pra-entric$lar tachycar!ia%

This can &e confirme! &y 8CG monitoring" an! is $s$ally s$ccessf$lly

re-erte! &y a!enosine with !igoin maintenance therapy%

n echocar!iogram will ecl$!e the rare possi&ility of an $n!erlying str$ct$ral

!efect%

10- 1


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Optic ner-e

Optic tract

Temporal lo&e 0ncorrect answer selecte!

The most li7ely localisation of the lesion is aro$n! the optic chiasm sprea!ing

$p the right optic ner-e% The signs in!icating a &itemporal -is$al fiel! !efect

with in-ol-ement of the right optic ner-e (!ecrease! -is$al ac$ity)% Occipitallo&e lesion ca$ses a congr$o$s homonymo$s hemianopia whereas an optic

tract lesion ca$ses an incongr$o$s homonymo$s hemianopia% Temporal lo&e

lesion ca$ses an $pper homonymo$s ,$a!ranopia%

Further readingE

Jis$al fiel!sPatient /

11- 3+year+ol! chil! presents with &r$ising to the 8mergency epartment%His mother says that this appeare! yester!ay%

He was &orn at 3K#54 gestation weighing 1%25 7g% He re,$ire! -entilation

for S" then home oygen for chronic l$ng !isease% He was operate! on

for '8C% S$&se,$ently he was a!mitte! with fail$re to thri-e" an! his motherwas treate! for postnatal !epression%

He is one of three chil!ren" all $n!er fi-e years% Aoth parents are

$nemploye!%

On eamination he loo7s weepy an! s$spicio$s% He is on the secon! centile

for height an! the 4%5thcentile for weight% He has Harrison.s s$lc$s%

Temperat$re is 3@%2>C" RR 4#min an! HR 92#min% Chest is clear an! there is

no m$rm$r% He has three p$rple linear &r$ises o-er his &ac7 an! thighs 2"2%2 an! = cm long%



Chil! a&$se Correct

Henoch+SchLnlein p$rp$ra

Throm&oytopaenia

Jitamin !eficiency
http://www.patient.co.uk/doctor/Visual-Field-Defects.htmhttp://www.patient.co.uk/doctor/Visual-Field-Defects.htm


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Jiral infection

This is a -$lnera&le chil! with fresh &r$ising an! an inconsistent history% The

pattern of &r$ising s$ggests the $se of a strap or &elt% The !iagnosis is chil!

physical a&$se $ntil pro-en otherwise%

0t is important to familiarise yo$rself with the local proce!$res for managing

s$ch cases% 0n-ol-e yo$r seniors% Remem&er to recor! an! sign yo$r fin!ingsin !etail" incl$!ing -er&atim recor! of what the mother has sai!"

meas$rements an! photographs of physical fin!ings%

Clotting sho$l! &e chec7e! an! consi!eration gi-en to !oing a s7eletal

s$r-ey%

12-0n congenital hypertrophic pyloric stenosis

True / False

The classical ra!iological appearance is the F!o$&le &$&&leF Correct

Jomiting typically starts at to 5 wee7s Correct

Jomit$s is &ile staine! Correct

Ref$sal of fee!s is a feat$re Correct

Hypochloraemic al7alosis occ$rs Correct

The characteristic ra!iological feat$re is the .string sign." which comprises a thincontracte! pyloric canal" containing a central strea7 of &ari$m% The clinical symptoms

commonly appear in this time frame% The -omiting is not &ile staine! &$t consists oflarge -ol$mes of c$r!le! mil7% ppetite an! fee!ing are normal or increase!% The

characteristic meta&olic a&normality is hypochloraemic hypo7alaemic al7alosis%

13- 12+year+ol! &oy from 0n!ia presents with a 5 wee7 history of co$ghan! weight loss% 0nitially the co$gh was !ry" &$t recently he has co$ghe! $p

some &loo!% He has lost < 7g in weight% He has pre-io$sly &een healthy% $ll

term normal !eli-ery" no neonatal pro&lems% 0mm$nisations $p to !ate"incl$!ing ACG at &irth% 'o family or social history of note%


9/36

On eamination the temperat$re is 3C" an! he has loose s7in fol!s

s$ggesting recent weight loss% He has crac7les at the right &ase% Danto$test gi-es 1mm in!$ration after 5< ho$rs%



cti-e t$&erc$losis Correct

atent t$&erc$losis

Diliary t$&erc$losis

Positi-e Danto$ !$e to ACG

T$&erc$lo$s meningitis

0n this case the chronic symptoms of fe-er" co$gh an! weight loss" at ris7

&ac7gro$n!" an! positi-e Danto$ test (I14 mm) ma7e acti-e TA li7ely% This can &econfirme! &y 3 sp$t$m for A% Treatment re,$ires at least months of triple

therapy an! at least a f$rther 5 months of !o$&le therapy% 0t is prefera&le to monitorthis !irectly (irectly O&ser-e! Therapy OT) to re!$ce the ris7 of relapse an! the

!e-elopment of resistant organisms

14-The !iagnosis of non+acci!ental in;$ry in a chil! is more li7ely ifE

True / False

The presentation of a chil! with significant in;$ries to a health professional is

!elaye! Correct

The history of in;$ry gi-en &y the father is consistent with that gi-en &y the

mother Correct

The chil! is three years ol! an! has &r$ising to the shin Correct

There is etensi-e &r$ising an! throm&ocytopenia Correct

He#she is si months ol! an! has a torn la&ial fren$l$m Correct

&$se! chil!ren may present in many !ifferent ways an! recognition is -ery

rarely straight forwar!%

s always" it is -ery important to !oc$ment the in;$ries clearly an!

acc$rately% 0t is also essential to ta7e a !etaile! history of how the in;$rieswere s$staine!" prefera&ly from more than one person%


10/36

Social &ac7gro$n! an! family circ$mstances are important factors to as7

a&o$t in the history% Other rele-ant !etails which may point to a !iagnosis ofnon+acci!ental in;$ry incl$!e the followingE

1% !elay in see7ing a!-ice from health professionals%

% n ina!e,$ate" inconsistent or $nrealistic eplanation%

3% 0n!ifferent" or inappropriate concern of the carer%

5% Parent $nwilling for the chil! to &e eamine!%

2% Chil! or si&lings on the chil! protection register%

chil! of three years is -ery li7ely to ha-e &r$ising to the shins as a res$lt of

acci!ental minor in;$ry% 0f a chil! with etensi-e &r$ising is fo$n! to ha-e athrom&ocytopaenia" the chil! will nee! f$rther haematological in-estigations%

0t is" howe-er important to emphasise that chil!ren with other me!ical

con!itions may also &e the -ictims of chil! a&$se an! therefore it isimportant to ta7e all factors into acco$nt%

The final stem relates to a @+month+ol! &a&y presenting with a torn

fren$l$m% This scenario sho$l! raise serio$s s$spicion of the &a&y either

&eing force fe! or ha-ing other o&;ects thr$st into his#her mo$th% mo&ile

chil! can tear the la&ial fren$l$m as a res$lt of an acci!ental fall" howe-erthis is not the case in non+am&$latory chil!ren%

15-Which of the following is correct concerning cystic fi&rosis?


0s an +lin7e! recessi-e con!ition

Has a gene fre,$ency in the pop$lation of 1E24

The m$tation responsi&le for C is fo$n! on chromosome 1=

The commonest pathogens responsi&le for respiratory !isease are Pseudomonasan!

Staph. aureus Correct

0nfection with Burkholderia cepaciais not transmissi&le

Cystic fi&rosis is an a$tosomal recessi-e con!ition" with the most common

m$tation &eing M24< locate! on chromosome = (gene map loc$s =,31%)% 0t

is one of the most common m$tations in the western worl! with a gene


11/36

fre,$ency of approimately 1 in % 0t is associate! with meconi$m ile$s"

pancreatic !ysf$nction" rec$rrent respiratory tract infections an! infertility inmales to name &$t a few%

Rec$rrent an! chronic respiratory tract infections in patients with cysticfi&rosis res$lt in progressi-e l$ng !amage an! are the primary ca$se of

mor&i!ity an! mortality% 0nfections are $s$ally ca$se! &y Gram+negati-e

organisms especially the pse$!omona!s incl$!ing Pseudomonas aeruginosa%

Burkholderia cepaciahas emerge! as a pathogen in patients with C that

may lea! to rapi! !eterioration of l$ng f$nction% 0nfection with B. cepacia

may &e highly transmissi&le in C patients an! epi!emics ha-e &een!escri&e! in a n$m&er of C centres% Staph. aureusis also an important

pathogen in chil!ren%

16- @+wee7+ol! male is !iagnose! with congenital hypertrophic pyloricstenosis% He is fo$n! to ha-e hypo7alaemia% Which of the following is the

ca$se of the hypo7alaemia in this con!ition?


Deta&olic al7alosis pro!$cing a para!oical renal loss of potassi$m ions

ssociate! type 0J renal t$&$lar aci!osis

0ntracell$lar potassi$m shift

Para!oical meta&olic renal t$&$lar aci!osis

/pper gastrointestinal losses Correct

The hypo7alaemia in pyloric stenosis is !$e to G0 losses as generally there isrenal conser-ation of potassi$m% lso" the al7alosis is associate! with loss of

HKions again thro$gh -omiting an! the effort to conser-e these with the

pro!$ction of an al7aline $rine%

17- 13+year+ol! girl from 0n!ia presents with positi-e Danto$ test after aro$tine health chec7% She has &een well with no symptoms" an! the Danto$

has &een !one &eca$se she ha! &een treate! for si months for TA at theage of < years%


12/36

She ha! a f$ll term normal !eli-ery with no neonatal pro&lems% Her

imm$nisations $p to !ate" incl$!ing ACG at &irth% There is no other family orsocial history of note%

On eamination the temperat$re is 3@%C" respiratory rate 12#min an! heartrate =2#min% P$&escent an! healthy% On the 26 for height an! weight%

Chest clincially clear% 1 mm in!$ration on -olar aspect of left forearm% Chest

ray shows perihilar calcification%



cti-e t$&erc$losis (TA)

atent t$&erc$losis This is the correct answer

Diliary t$&erc$losis

Positi-e Danto$ !$e to ACG 0ncorrect answer selecte!

T$&erc$lo$s meningitis

The history is of an a!olescent at ris7 of reacti-ation TA" with calcification on

the chest ray an! positi-e Danto$%

This s$ggests latent !isease which has heale!%

She is at ris7 of reacti-ation !isease" especially if imm$nos$ppresse! (for

eample" &y systemic steroi!s)%

18- false negati-e Danto$ test may &e present in the following con!itionsE

True / False

Diliary t$&erc$losis Correct

Pre-io$s Danto$ test Correct

Hypothyroi!ism Correct

Pre!nisolone therapy Correct

Sarcoi!osis Correct

false+negati-e Danto$ test may reflect s$ppression of the imm$ne system as is

the case in any imm$nos$ppressi-e therapy s$ch as high+!ose steroi! therapy"


13/36

a*athioprine" cyclosporin% Diliary TA is associate! with an o-erwhelming infectionca$sing a relati-e imm$nos$ppression an! hence manto$ negati-e% Classically in

Sarcoi!osis" aetiology" there is a s$ppression of cell+me!iate! imm$nity lea!ing tofalse+negati-e testing%

19-The following are tr$e of cystic fi&rosisE

True / False

ro$n! 126 present with meconi$m ile$s Correct

0n chil!ren $n!er one year of age the commonest ca$se of pne$monia is

Staphylococcus 0ncorrect answer selecte!

0n the school age chil!" it $s$ally presents with hepatic fi&rosis Correct

0nfertility in men is a res$lt of testic$lar atrophy Correct

146 of patients will not re,$ire pancreatic en*yme s$pplementation Correct

0n infancy" the commonest ca$se of pne$monia is pro&a&ly -ir$ses withstaphylococcal an! pse$!omonal infections occ$rring in ol!er chil!ren%

Colonisation with pse$!omonas (Burkholderia) cepacia may &e associate!

with partic$larly rapi! p$lmonary !eterioration an! !eath%

Dore than


14/36

20- =+year+ol! girl presents with a 3 !ay history of rash an! an7leswelling% She ha! a col! 5 wee7s pre-io$sly" &$t has otherwise &een healthy%

39K1#54" %9@7g% 'o neonatal pro&lems% 'o !r$gs or me!ications% $lly

imm$nise!%

On eamination she has palpa&le non+&lanching p$rple spots 1+5 mm in!iameter especially o-er the shins an! &$ttoc7s% Her left an7le is swollen"warm an! ten!er" with restricte! mo-ement%



c$te lympho&lastic le$7aemia

Chil! physical a&$se

Henoch Schonlein p$rp$ra Correct

0!iopathic Throm&ocytopaenic P$rp$ra

Pne$mococcal septicaemia

The history is of prece!ing /RT0 followe! &y -asc$litis on the shins an! &$ttoc7s" an!

an7le swelling% This is classical of Henoch+Schonlein p$rp$ra% The pathological lesionis a -asc$litis" hence the lesions are often palpa&le% 0n contrast throm&ocytopaenic

p$rp$ra are not raise!% The classical feat$res are rash" ;oint swelling" haemat$ria"

an! G0 symptoms (-omiting" a&!ominal pain" PR &lee!ing" occasionalint$ss$sception)%

21-Regar!ing $n!escen!e! testesE

True / False

or optimal fertility" the testes sho$l! &e 1>C &elow &o!y temperat$re% Correct

/n!escen!e! testes sho$l! &e correcte! &y the age of 14 years to optimise

fertility% Correct

0f one testis is a&sent" a prosthesis sho$l! &e inserte! as soon as possi&le to

minimise psychological pro&lems% Correct

0ntram$sc$lar HCG is a relia&le metho! of promoting testic$lar !ecent% Correct

The ris7 of testic$lar malignancy at p$&erty for an intra+a&!ominal testis may &e

as high as 146% This is the correct answer


15/36

The in!ications for treatment of $n!escen!e! testes areE

0mpro-e! fertilityE the testes sho$l! &e 1C &elow &o!y temperat$re to

optimise fertility" an! correction sho$l! occ$r &efore years of age%

Re!$ce! ris7 of malignancyE the highest ris7 for testic$lar malignancymay &e aro$n! 146 for testes intra+a&!ominal at p$&erty% The ris7 is

increase! with &ilateral $n!escen!e! testes% ltho$gh early orchi!opey

may not re!$ce this ris7" it !oes at least ma7e the testes palpa&le%

Cosmetic an! psychologicalE prostheses are $s$ally inserte! aro$n!

p$&erty" once the a!$lt si*e of the normal testis is 7nown% 0D HCG or

intranasal HR is $se! in some centres" &$t it rarely pre-ents the nee!

for s$rgery% Orchi!opey is the $s$al proce!$re an! is performe! at 1+

years of age as a !ay case% Orchi!ectomy sho$l! &e !one if the intra+

a&!ominal testis cannot &e mo&ilise! s$fficiently% Dicro-asc$lar

proce!$res or stage! orchi!opey may &e alternati-es to preser-e the

testes if they are &ilaterally intra+a&!ominal%

Copyright 2002 Dr Colin Melville

22-mo!erately !ehy!rate! &a&y with ac$te gastroenteritisE

True / False

Has a fl$i! !eficit of a&o$t 24+144ml per 7ilogram Correct

0s more li7ely to ha-e hypernatraemia than hyponatraemia Correct

Will ha-e loss of s7in t$rgor Correct

0f &reast fe!" sho$l! stop oral fee!ing Correct

0f form$la fe! will nee! a lactose+free mil7 on commencing oral fee!ing Correct

mo!erately !ehy!rate! &a&y has a loss of @+96 of &o!y weight an! a fl$i! !eficit

of aro$n! 24+144mls#7g% Hyponatraemia or a normal ser$m so!i$m is more li7ely to

&e present than hypernatraemia% ecrease! s7in tone an! tiss$e t$rgor will &epresent" also olig$ria" !ry m$co$s mem&ranes an! s$n7en fontanelle% Areast fee!ingsho$l! &e contin$e! an! s$pplement oral fee!s may &e re,$ire! to maintain

a!e,$ate -ol$mes% orm$la fe! infants sho$l! not ha-e their form$la change! an!mil7 fee!ing sho$l! not &e !iscontin$e!%

23-HypernatraemiaE

True / False


16/36

may &e associate! with intracranial haemorrhage Correct

may ca$se sei*$res Correct

may &e ca$se! &y trans+$rethral resection of prostate (T/RP) syn!rome Correct

so!i$m le-els sho$l! &e correcte! rapi!ly Correct

commonly ca$ses arrhythmias Correct

Hypernatraemia is !efine! as a so!i$m o-er 152 mmol#l%

Ca$ses of hypernatraemia can &e s$&+!i-i!e! intoE

Water loss e%g% !iarrhea" -omiting" !i$resis" !ia&etes insipi!$s%

Re!$ce! water inta7e e%g% altere! thirst" impaire! access%

8cessi-e so!i$m inta7e e%g% salt ta&lets" hypertonic saline"

hyperal!osteronism%

Hypernatraemic patients are $s$ally !ehy!rate! an! the effects of

hypernatraemia are mainly on the central ner-o$s system (sei*$res) an!m$scle f$nction% Cere&ral !ehy!ration with r$pt$re of the -essels an!

intracranial haemorrhage may occ$r% rrhythmias !o not commonly occ$r%

Rapi! correction of the ser$m so!i$m may lea! to cere&ral oe!ema an!

con-$lsions an! f$ll correction sho$l! ta7e at least 5< ho$rs%

Trans+$rethral resection of prostate (T/RP) syn!rome is $s$ally associate!

with hyponatraemia%

24-Which one of the following has its own self+replicating '?


Golgi &o!y

ysosomes

Ditochon!ria Correct

Peroisome


17/36

Ro$gh en!oplasmic retic$l$m

&normalities of mitochon!rial !eoyri&on$cleic aci! (') are associate!

with inherite! con!itions s$ch as e&er.s optic atrophy" mitochon!rial

myopathy" lactic aci!osis an! stro7e+li7e episo!es (D8S) syn!rome" an!

!ia&etes insipi!$s" !ia&etes mellit$s" optic atrophy an! !eafness (0DO)%

(r Ja;ira H% W% issanaya7e)

25- 12+year+ol! girl was seen &y her family physician &eca$se ofincreasing lethargy% She ha! a recent history of the .fl$.% Aiochemistry testsshow that she has renal impairment%

Serum sodium 154 mmol# (13=+155)

Serum potassium 5% mmol# (3%2+5%9)

Serum urea < mmol# (%2+=%2)

Serum reatinine


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26-The following fin!ings s$ggest a !iagnosis of Pompe.s isease rather

than Jon Gier7e.s iseaseE

True / False

3cm li-er Correct

0nfantile onset Correct

Hypotonia Correct

Hypertrophic car!iomyopathy Correct

&sence of hypoglycaemia Correct

Jon Gier7e.s isease (gl$cose+@ phosphatase !eficiency) has infant onset"with li-er enlargement" growth fail$re" an! hypoglycaemia% 0t is treate! with

long+acting car&ohy!rates" an! the prognosis is goo!% Pompe.s isease

(lysosomal a+gl$cosi!ase !eficiency)" again has infant onset" with a lesser

!egree of li-er enlargement than Jon Gier7e.s isease" &$t a pre!ominanteffect on m$scle% This res$lts in hypotonia" a hypertrophic car!iomyopathy"

an! !eath from heart fail$re%


27-The following are tr$e of infants with a single $m&ilical arteryE

True / False

The inci!ence is 1E144% 0ncorrect answer selecte!

Congenital anomalies are fo$n! in a&o$t 1#3 of cases% Correct

There is an association with trisomy 1


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ha-e congenital a&normalities" $s$ally more than one" an! many s$ch infants

are still&orn or !ie shortly after &irth% 1


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$tosomal !ominant

$tosomal !ominant with incomplete penetrance

$tosomal recessi-e

lin7e! !ominant Correct

lin7e! recessi-e

Jitamin resistant ric7ets is inherite! in an lin7e! !ominant manner%

Therefore an affecte! female will transmit the !isease to 246 of her sons

an! 246 of her !a$ghters%

n affecte! male will transmit the con!ition to all of his !a$ghters &$t none

of his sons%

0n this case as the mother is $naffecte!" therefore there is no ris7 of the

con!ition &eing passe! to her $n&orn chil!%

30-n 11 month ol! girl presents with fe-er for 3 !ays% She has nolocalising symptoms for infection% She was &orn at 3


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Deningococcal septicaemia

Pne$mococcal &acteraemia Correct

Septic arthritis

/rinary tract infection

Jiral infection

The history is of high fe-er witho$t localising signs in a chil! of 3+3@ months% The

ne$trophilia an! -ery high CRP ma7e a &acteraemia li7ely% The commonest organismis pne$mococc$s (


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Jentric$lar septal !efect 0ncorrect answer selecte!

The 7ey points are the own.s syn!rome" heart fail$re" with lo$! m$rm$rs% 246 ofown syn!rome patients ha-e str$ct$ral congenial heart !isease% The commonest

a&normalities is atrio+-entric$lar canal !efect followe! &y JS% 0n the former (osti$mprim$m S) there is a !efect in the lower part of the atrial sept$m" the me!ial part

of the tric$spi! an! mitral -al-es" an! in the $pper part of the -entric$lar sept$m%Hence there are o-erlapping m$rm$rs of S" JS" tric$spi! an! mitral reg$rgitation

together with heart fail$re% fter !etaile! e-al$ation &y echocar!iography" s$rgical

repair is $n!erta7en%

32- 14 month ol! &oy presents with a 3 month history of !iarrhoea% Hewas well $ntil @ months of age" when he !e-elope! -omiting an! !iarrhoea%

The -omiting settle! within 5 ho$rs" &$t the !iarrhoea has persiste! 3+5

times# !ay" loose an! watery% He has &ecome thinner% He was &orn at termweighing 3%527g" is f$lly imm$nise!" an! there is no H#SH of note%

On eamination he loo7s thin an! waste!" with loose &$ttoc7 s7in fol!s % He

is &elow the 36 for weight an! on the 26 for height% He loo7s pale &$t is

not cl$&&e!% Car!iac an! respiratory eamination is normal% His a&!omen is

!isten!e! an! tympanic an! he has perianal ecoriation%



$toimm$ne enteropathy

Coeliac !isease 0ncorrect answer selecte!

Post+enteritis enteropathy This is the correct answer

To!!ler !iarrhoea

/lcerati-e colitis

The history s$ggests ac$te gastroenteritis" followe! &y mala&sor&tion with aci!icstools ca$sing perianal ecoriation% The li7ely !iagnosis is post+enteritis enteropathy

(post+infectio$s secon!ary lactase !eficiency)% 0n this con!ition there is !elaye!

reco-ery of the intestinal -illi% Since only mat$re enterocytes are f$lly competent to!igest foo!" this res$lts in !iarrhoea !$e to mal!igestion% Stools may contain ecesscar&ohy!rate (IK on Clinitest) an! pH 2%@%


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33-t months of age a &oy is referre! with a&!ominal mass% This has&een fo$n! at the ro$tine @ wee7 s$r-eillance re-iew% He was &orn at term

weighing 3%= 7g" an! the parents were first co$sins%

On eamination he has low+set ears" frontal &ossing" a !epresse! nasal

&ri!ge an! long philtr$m% He has 5 cm hepatomegaly an! 3 cmsplenomegaly% He has poor hea! control% ltho$gh he smile! at @ wee7s hehas not ma!e f$rther !e-elopmental progress%



H$nter syn!rome 0ncorrect answer selecte!

H$rler syn!rome

Gangliosi!osis This is the correct answer

San ilippo syn!rome

Qellweger syn!rome

The consang$inity" !ysmorphic feat$res" hepatosplenomegaly an!!e-elopmental arrest s$ggest a storage !isease% These incl$!e lipi!oses"

m$copolysacchari!oses an! glycogenoses%

0n this case the feat$res are most characteristic of infantile GD1

Gangliosi!osis" 246 of whom ha-e a mac$lar cherry re! spot%

34+Which one of the following statements correctly applies to normalgrowth%


The a-erage growth -elocity is 1cm#year in the first year of life

The pea7 height -elocity is


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The a-erage growth -elocity is 1


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Jasc$lar resistance in the lower lim&s This is the correct answer

Jasc$lar resistance in the $pper lim&s

This patient with a f$lly compensate! coarctation &loo! flow is normal in &oth the

lower an! $pper lim&s !espite increase! press$re in the $pper lim&s compare! to

lower &o!y% Th$s as resistancepress$re#&loo! flow" resistance m$st &e lower in thelower lim&s%

37-Which of the following en*yme !efects is associate! with a characteristic&o!y o!o$r?


Phenylalanine aminotransferase

Galactose4+phosphate+$ri!yltransferase

Ornithine transcar&amylase !eficiency

$maryl acetoacetase

Aranche! chain 7etoaci! !ecar&oylase Correct

The following in&orn errors of amino aci! meta&olism are associate! with

a&normal o!o$rsE Gl$taric aci!aemia type 00 (sweaty feet)" haw7insin$ria

(swimming pool)" iso-aleric aci!aemia (sweaty feet)" maple syr$p $rine!isease (maple syr$p)" methionine mala&sorption (ca&&age)" m$ltiple

car&oylase !eficiency (tomcat $rine)" oastho$se $rine !isease (hops+li7e)"

phenyl7eton$ria (mo$sy or m$sty)" trimethylamin$ria (rotting fish)"tyrosinaemia (ranci!" fishy or ca&&age+li7e)% 0n a!!ition" 7etones may &e

smelt in !ia&etic 7etoaci!osis" an! some interme!iary !isor!ers of fatty aci!

meta&olism can res$lt in fishy smells% The general r$le is that if a chil! smells

pec$liar he re,$ires a meta&olic wor7+$p%


38-0n sic7le cell !iseaseE


The Sic7le!e test in-ol-es a!!ing a reagent to &loo!" which allows the nat$re of the

haemoglo&inopathy to &e !etermine!


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0t is ca$se! &y the s$&stit$tion of gl$tamic aci! &y -aline at position 5 on the &eta chain

of haemoglo&in

The erythrocytes of Haemoglo&in S patients can sic7le at a PO of 2 to @ 7Pa (54 + 24

mmHg) 0ncorrect answer selecte!

The erythrocytes of Haemoglo&in SC patients may sic7le at a PO of 5 7Pa (34 mmHg)

This is the correct answer

8change transf$sions prior to ma;or s$rgery on H&SS patients" aims to lower the H&S

concentration to @46

Sic7le cell !isease is a haemoglo&inopathy ca$se! &y the s$&stit$tion ofgl$tamic aci! &y -aline at position @ (from the '+terminal) of the &eta chain%

0nherite! as an a$tosomal gene" hetero*ygo$s (H&S) an! homo*ygo$s

(H&SS) forms eist% low partial press$re of oygen (PO) ca$ses H&S to

polymerise an! precipitate" res$lting in sic7ling of the erythrocyte% H&SS

patients sic7le at PO of 2 + @ 7Pa an! H&S patients sic7le at PO of %2 + 57Pa% mil! !isease is pro!$ce! when hetero*ygotes for H&S com&ine with

other haemoglo&ins e%g% Haemoglo&in C" th$s creating H&SC% Sic7ling occ$rs

at aro$n! 5 7Pa% iagnosis of sic7le cell !isease re,$ires the !etection ofH&S% The Sic7le!e test in-ol-es the a!!ition of reagent to &loo!: t$r&i!ity

confirming the presence of H&S" &$t it gi-es no information on other

haemoglo&ins% Haemoglo&in electrophoresis is the only in-estigation that

!etermines the nat$re of the haemoglo&inopathy%

Aefore s$rgery the aim is to re!$ce H&S concentration to less than 46 not

@46%

39- = month ol! girl presents with fe-er an! a rash% She was completelywell till 2 !ays ago" when she !e-elope! a slight col!% The net !ay she

!e-elope! fe-er to 39%=>C" which has persiste! !espite antipyretics% espite

this she has remaine! relati-ely well an! contin$es to !rin7" tho$gh herappetite is poor% To!ay she has !e-elope! a rash o-er the face an! tr$n7%

She was &orn at term weighing 3%


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CDJ infection

0nfectio$s monon$cleosis 0ncorrect answer selecte!

Deasles

Par-o-ir$s infection

Roseola infant$m This is the correct answer

The history of a well chil! with high fe-er for a few !ays followe! &y

resol$tion of fe-er at aro$n! the time of appearance of a rose+colo$re! rashis characteristic of roseola infant$m% Since the intro!$ction of DDR" this is &y

far the commonest ca$se of a measles+li7e rash% The pea7 inci!ence is @+1

the fourth document in the word form

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